IthaID: 1153



Names and Sequences

Functionality: Globin gene causative mutation
Common Name: CD 102 AAC>ACC [Asn>Thr] HGVS Name: HBB:c.308A>C
Hb Name: Hb Kansas Protein Info: β 102(G4) Asn>Thr

Context nucleotide sequence:
GACAAGCTGCACGTGGATCCTGAGA [A/C/G] CTTCAGGGTGAGTCTATGGGACGCT (Strand: -)

Protein sequence:
MVHLTPEEKSAVTALWGKVNVDEVGGEALGRLLVVYPWTQRFFESFGDLSTPDAVMGNPKVKAHGKKVLGAFSDGLAHLDNLKGTFATLSELHCDKLHVDPETFRLLGNVLVCVLAHHFGKEFTPPVQAAYQKVVAGVANALAHKYH

Also known as: Hb Reissmann

Location

Chromosome: 11
Locus: NG_000007.3
Locus Location: 71032
Size: 1 bp
Located at: β
Specific Location: Exon 2

Phenotype

Hemoglobinopathy Group: Structural Haemoglobinopathy
Hemoglobinopathy Subgroup: β-chain variant
Allele Phenotype:N/A
Stability: Unstable
Oxygen Affinity: Decreased Oxygen Affinity
Associated Phenotypes: N/A

Other details

Type of Mutation: Point-Mutation(Substitution)
Effect on Gene/Protein Function: Missense codons (Protein Structure)
Ethnic Origin: Japanese
Inheritance: Recessive
DNA Sequence Determined: No
Detection Methods: Direct DNA sequencing

Sequence Viewer

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Publications / Origin

  1. REISSMANN KR, RUTH WE, NOMURA T, A human hemoglobin with lowered oxygen affinity and impaired heme-heme interactions., J. Clin. Invest. , 40(0), 1826-33, 1961 PubMed
  2. Bonaventura J, Riggs A, Hemoglobin Kansas, a human hemoglobin with a neutral amino acid substitution and an abnormal oxygen equilibrium., J. Biol. Chem. , 243(5), 980-91, 1968 PubMed
  3. Bunn HF, Subunit dissociation of certain abnormal human hemoglobins., J. Clin. Invest. , 48(1), 126-38, 1969 PubMed
  4. Gibson QH, Riggs A, Imamura T, Kinetic and equilibrium properties of hemoglobin Kansas., J. Biol. Chem. , 248(17), 5976-86, 1973 PubMed
  5. Ishiguro K, Ohba Y, Hattori Y, Miyaji T, Oshida Y, Tachinami T, Takabatake S, Nakaizumi K, Hemoglobin Kansas in a Japanese family., Hemoglobin, 7(6), 573-9, 1983 PubMed
Created on 2010-06-16 16:13:16, Last reviewed on 2014-05-23 11:45:56 (Show full history)

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